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rs137854572

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6.5 Familial Adenomatous Polyposis
Make rs137854572(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position112828001
GeneAPC
is asnp
is mentioned by
dbSNPrs137854572
dbSNP (classic)rs137854572
ClinGenrs137854572
ebirs137854572
HLIrs137854572
Exacrs137854572
Gnomadrs137854572
Varsomers137854572
LitVarrs137854572
Maprs137854572
PheGenIrs137854572
Biobankrs137854572
1000 genomesrs137854572
hgdprs137854572
ensemblrs137854572
geneviewrs137854572
scholarrs137854572
googlers137854572
pharmgkbrs137854572
gwascentralrs137854572
openSNPrs137854572
23andMers137854572
SNPshotrs137854572
SNPdbers137854572
MSV3drs137854572
GWAS Ctlgrs137854572
Max Magnitude6.5
OMIM611731
Desc
Variant0014
Relatedalso
ClinVar
Risk rs137854572(T;T)
Alt rs137854572(T;T)
Reference Rs137854572(C;C)
Significance Pathogenic
Disease Familial adenomatous polyposis 1 Brain tumor-polyposis syndrome 2 Hereditary cancer-predisposing syndrome
Variation info
Gene APC
CLNDBN Familial adenomatous polyposis 1 Brain tumor-polyposis syndrome 2 Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000005.9:g.112163698C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000843.2, RCV000000844.2, RCV000490845.1,